Varaico: Literature-Extracted Genetic Variants

Gene:CLOCK

CLOCK

153 papers

RefSeq Summary

The protein encoded by this gene plays a central role in the regulation of circadian rhythms. The protein encodes a transcription factor of the basic helix-loop-helix (bHLH) family and contains DNA bi...

Pfam Domains

HLHaa 35–85UCSCHelix-loop-helix DNA-binding domain
PASaa 109–189UCSCPAS fold
PAS_11aa 273–380UCSCPAS domain

Gene Aliases

HGNC Name

clock circadian regulator

HGNC Alias Symbols

KIAA0334; KAT13D; bHLHe8

Papers
RefSeq ID
Protein change
DNA change
1–12 of 109 variants
6 papers
NM_004898.4
p.Q755del1
c.2263_2264delCTG
5 papers
NM_004898.4
p.F104S
c.311T>C
5 papers
NM_004898.4
p.L123*
c.368T>G
5 papers
NM_004898.4
p.L123*
c.368T>A
4 papers
NM_004898.4
p.L123delFs
c.368delA
3 papers
NM_004898.4
p.S208C
c.623C>G
3 papers
NM_004898.4
p.L395I
c.1183C>A
2 papers
NM_004898.4
p.L123fs
c.367_368fs
2 papers
NM_004898.4
p.T254delFs
c.760delT
2 papers
NM_004898.4
p.F288L
c.862T>C
2 papers
NM_004898.4
p.R476T
c.1427G>C
2 papers
NM_004898.4
p.H542R
c.1625A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."